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March 31, 2009

Ruled Out: Lesch-Nyhan Disorder

We got the Metabolic Clinic Medical Report in the mail today. Included with the report were some lab results I hadn't seen yet--in particular the uric acid test results. Bertrand's uric acid came back normal, which discounts another dreadful disease called Lesch-Nyhan Syndrome. So, it's back to the drawing board--or rather--back to medical imaging.

The MRI next week (4/8/09) will really be able to tell us what direction to move in. MRI gives information about the structure of the body (the distribution of water and fat). With the MRI he'll also be getting a MR spectroscopy and a MR angiography. The Magnetic Resonance Spectroscopy is used to obtain biochemical information. The Magnetic Resonance Angiography is used to generate images of the arteries.

A procedure that, while not for a diagnosis, may help guide Bertrand's treatment is a Lumbar Puncture (LP)--also known as a spinal tap. As mentioned in a prior post, Bertrand's prolactin levels were elevated. The movement disorder portion of his presentation could be caused by too much neurotransmitter--which is treatable. I am certain that reducing his involuntary movements would decrease Bertrand's frustration and improve his quality of life.

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The Bertrand Might Research Fund has been established at Sanford Burnham Medical Research Institute, a 501(c)3 charitable organization. Your donation will help Dr. Hudson Freeze’s lab begin to unravel the mystery of N-Glycanase deficiency, and hopefully find a treatment in the near future.

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